NAD(P)HX epimerase deficiency

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NAD(P)HX epimerase deficiency

Synonyms: Apolipoprotein A-I binding protein deficiency

A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration typically precipitated by a febrile illness. Patients present with hypotonia loss of previously acquired motor milestones and cognitive skills ataxia nystagmus tremor seizures tetraparesis and respiratory failure eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities cerebral atrophy cerebellar edema and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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NAD(P)HX epimerase deficiency?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.